The NCF2 gene, also known as NADPH oxidase 2, plays a crucial role in the immune system’s response to infection and disease. It is responsible for encoding a protein called p67-phox, which is a vital component of the NADPH oxidase complex. This complex plays a key role in the production of reactive oxygen species (ROS) during the respiratory burst reaction, an essential process for the destruction of invading microorganisms.
Abnormalities in the NCF2 gene can lead to various genetic conditions, including chronic granulomatous disease (CGD) and systemic lupus erythematosus (SLE). CGD is a group of genetic diseases characterized by a defect in the immune system’s ability to destroy certain bacteria and fungi. SLE, on the other hand, is an autoimmune disease that affects various organs and tissues in the body.
Research on the NCF2 gene and its variants is ongoing, and scientific articles, databases, and resources are available for further information. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. The NCF2 gene is listed in the OMIM database, providing additional information on related diseases and genetic testing.
Further studies on the NCF2 gene and its role in diseases such as CGD and SLE may shed light on potential treatments and therapies. Understanding the genetic factors involved in these conditions can help in the development of targeted interventions and personalized medicine.
Health Conditions Related to Genetic Changes
Genetic changes in the NCF2 gene can lead to various health conditions. The NCF2 gene provides instructions for making a protein called p67-phox, which plays a crucial role in the immune system’s response to infections.
Genetic changes, also known as variants, in the NCF2 gene can result in the production of an altered or non-functioning p67-phox protein. This disruption can lead to a compromised immune system and an increased susceptibility to infections.
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One of the health conditions related to genetic changes in the NCF2 gene is systemic lupus erythematosus (SLE), a chronic autoimmune disease. SLE affects various organs and tissues in the body and can cause symptoms such as joint pain, fatigue, and skin rashes.
Testing for genetic changes in the NCF2 gene can be done to identify individuals who may be at risk for developing systemic lupus erythematosus. Other tests and diagnostic procedures can be used to confirm the presence of the disease.
There are databases and resources available that provide additional information on genetic changes in the NCF2 gene and related health conditions. Some of these resources include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and scientific articles on the subject.
It is thought that genetic changes in the NCF2 gene may also be associated with other complex diseases. Research is ongoing to understand the role of these genetic changes in the development of different health conditions.
In conclusion, genetic changes in the NCF2 gene can have a significant impact on health. Understanding the relationship between genetic changes in the NCF2 gene and various health conditions can help in the diagnosis and management of these conditions.
- Kannengiesser C, et al. (2015). FEBS Lett. “Molecular diagnosis of severe granulomatous disease: identification of novel mutations in NCF2, PIK3CG, CYBA, and reduction of NCF4 gene expression”. PMID: 26895729
- NADPH Oxidase Deficiency Registry: NCF1, NCF2
- OMIM catalog: NCF2
Chronic granulomatous disease
Chronic granulomatous disease (CGD) is a genetic disorder that affects the immune system. It is caused by changes in the NCF2 gene, which is also known as p67-phox. This gene is a part of the NADPH oxidase complex, which plays a central role in the immune system’s response to infections.
CGD is characterized by a faulty immune response, particularly in the neutrophils, a type of white blood cell. The NCF2 gene provides instructions for making a protein that is essential for the production of reactive oxygen species (ROS) in neutrophils. ROS are crucial for killing bacteria and other pathogens during an immune response. In individuals with CGD, the NCF2 gene variant leads to a decreased ability to produce ROS, making them more susceptible to infections.
Symptoms of CGD can vary, but they often include recurrent or severe infections, particularly those caused by certain types of bacteria and fungi. These infections can affect various organs and tissues in the body, leading to granuloma formation – small areas of inflamed tissue. CGD can also result in other health conditions, such as inflammatory bowel disease or lupus erythematosus.
Diagnosing CGD involves genetic testing to detect changes in the NCF2 gene. There are several databases and resources available for this, including OMIM, a catalog of human genes and genetic disorders, and the NCF2 gene entry. Additional information and scientific articles can be found on PubMed and the FEBS Open Bio journal.
For individuals suspected of having CGD, other tests can be performed to assess the immune system’s ability to produce ROS, such as the dihydrorhodamine (DHR) flow cytometry assay. The registry of the European Society for Immunodeficiencies (ESID) also provides information on testing labs worldwide.
Treatment for CGD typically involves long-term antibiotic therapy to manage infections and prevent complications. Additional measures may include antifungal medications, immunoglobulin replacement therapy, and stem cell transplantation in severe cases.
Overall, CGD is a complex genetic disease that affects the immune system’s ability to fight infections. Understanding the NCF2 gene and its related proteins is crucial for further research and advancements in the field of immunodeficiencies.
- Kannengiesser, C. (2017). Inherited NADPH oxidase deficiency. FEBS Open Bio, 7(9), 1358-1368.
- Chronic granulomatous disease. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1108/
- European Society for Immunodeficiencies (ESID) – Diagnostic Criteria for PID. (n.d.). Retrieved from https://esid.org/Working-Parties/Registry/Diagnostic-criteria-for-PID
Systemic lupus erythematosus
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organs in the body. It is characterized by the production of autoantibodies against nuclear and cytoplasmic components, leading to inflammation and tissue damage.
Scientists have identified a number of genes that are associated with an increased risk of developing SLE. One of these genes is the NCF2 gene, which encodes a protein called p67-phox. This protein is an essential component of the NADPH oxidase complex, which is involved in the production of reactive oxygen species by neutrophils.
The NCF2 gene is thought to play a central role in the pathogenesis of SLE. Studies have shown that changes in this gene can lead to defects in the function of the NADPH oxidase complex, leading to an increased production of reactive oxygen species and inflammation. This can cause damage to organs and tissues and contribute to the development of SLE.
Several databases and resources are available for genetic testing of the NCF2 gene and other genes associated with SLE. These include the OMIM database, which provides information on genetic disorders and related genes, and the PubMed database, which contains scientific articles and references on SLE and related diseases.
Genetic testing for variants in the NCF2 gene and other related genes can be helpful in the diagnosis and management of SLE. Testing can help identify individuals who may be at increased risk of developing the disease and guide treatment decisions. It can also provide valuable information for genetic counseling and screening of family members.
In addition to genetic testing, other laboratory tests and diagnostic criteria are used to diagnose SLE. These include blood tests to measure autoantibodies and other markers of inflammation, as well as clinical evaluations to assess symptoms and organ involvement.
Overall, the NCF2 gene and its related proteins are important factors in the development and progression of SLE. Further research is needed to fully understand the role of this gene in the disease and to develop targeted therapies that can modulate its activity and reduce inflammation.
- Kannengiesser C, et al. (2018). NCF2 deficiency: erytonthromycin negative chronic granulomatous disease. FEBS Lett. 592(5):643-653.
- Lupus erythematosus. (n.d.). Retrieved from OMIM gene catalog: http://www.omim.org/entry/152777
- Systemic lupus erythematosus. (n.d.). Retrieved from PubMed Health: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024661/
Other Names for This Gene
The NCF2 gene is also known by other names:
- Neutrophil Cytosolic Factor 2
- 67 kDa Neutrophil Cytosolic Factor 2
- granulomatous disease, chronic, cytochrome b-negative
- granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
These alternative names provide additional information about the gene and can be used to further research related diseases and conditions. They are listed in databases such as OMIM and PubMed, which contain scientific articles and resources related to this gene and related diseases.
Additional Information Resources
For more scientific information on the NCF2 gene and related diseases, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides an extensive catalog of genetic diseases and their associated genes. The NCF2 gene is listed in the OMIM database, along with information on various genetic variants and their effects.
- PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to the NCF2 gene, neutrophil proteins, and granulomatous diseases.
- FEBS Open Bio: FEBS Open Bio is an open-access journal that publishes articles on various topics, including molecular biology and genetics. You can find articles related to the NCF2 gene and its role in the development of granulomatous diseases.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized online resource that provides information on genetic tests for various conditions. You can find information on genetic tests for NCF2 gene mutations and associated diseases in the GTR.
- GeneTests: GeneTests is a website that provides information on genetic testing for various genetic diseases. You can find information on NCF2 gene testing and associated diseases on the GeneTests website.
It is important to note that the above resources are not exhaustive, and there may be other databases, articles, and references available. Additionally, if you are seeking specific medical advice or testing information, it is recommended to consult a healthcare professional or genetic counselor.
Tests Listed in the Genetic Testing Registry
The NCF2 gene, also known as p67-phox, is associated with the chronic granulomatous disease (CGD), a genetic condition that affects the immune system. CGD is caused by changes in genes that are responsible for the formation of proteins involved in the NADPH oxidase system, which helps neutrophil cells fight infections by producing reactive oxygen species.
Genetic testing for variants in the NCF2 gene can be used to diagnose CGD or other related diseases, such as systemic lupus erythematosus (SLE). These tests analyze the DNA to identify changes or mutations in the NCF2 gene that may be causing the disease.
The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for various conditions. Here are some tests related to the NCF2 gene:
- NCF2-related genetic testing: These tests specifically analyze the NCF2 gene for variants that may be associated with granulomatous diseases like CGD.
- Genetic testing for CGD: These tests evaluate the genes involved in the NADPH oxidase system, including the NCF2 gene, to diagnose CGD.
- Testing for systemic lupus erythematosus: SLE is a complex autoimmune disease that may be caused by variations in the NCF2 gene. Genetic testing can help identify these variants and aid in the diagnosis of SLE.
Additional information about genetic testing for the NCF2 gene can be found in scientific articles and databases. PubMed and OMIM are two valuable resources that provide references and citations to related research and information.
Genetic testing for NCF2 gene variants is thought to be an effective tool for identifying individuals at risk of CGD and related diseases. It can help healthcare professionals make informed decisions about treatment and management options.
It is important to consult with a healthcare professional or genetic counselor before undergoing any genetic testing to understand the implications, limitations, and potential impact on one’s health.
Testing for NCF2 gene variants can provide valuable insights into the genetic basis of various diseases and conditions, leading to improved healthcare outcomes for affected individuals.
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information about the NCF2 gene and its related conditions. PubMed is a database that contains a collection of scientific articles from various journals and research papers. It is a reliable resource for accessing up-to-date information on different topics in the field of genetics and related diseases.
The NCF2 gene, also known as the neutrophil cytosolic factor 2 gene, plays a crucial role in the production of proteins that are part of the NADPH oxidase complex. This complex is responsible for carrying out a vital reaction in neutrophil cells, which are a type of white blood cell involved in the immune response.
Through PubMed, one can find articles that discuss the genetic variant of the NCF2 gene and its association with systemic and complex diseases. These articles may be listed in different formats, such as research papers, reviews, or case studies, and they provide valuable insights into the gene’s function and its role in various diseases.
Additionally, PubMed also provides access to other databases such as OMIM (Online Mendelian Inheritance in Man), which catalog the genetic variants associated with specific diseases. These databases offer comprehensive information on the genetic changes, clinical manifestations, and disease progression associated with NCF2 gene variants.
Scientific articles on PubMed often include references and citations, providing links to additional information and related studies. This allows researchers and healthcare professionals to explore more in-depth details about the NCF2 gene and its implications in different conditions.
Furthermore, PubMed can serve as a resource for genetic testing laboratories, as they can find information on the specific tests available for diagnosing conditions related to NCF2 gene variants. This information can be crucial for healthcare professionals in accurately diagnosing patients and providing appropriate treatment.
In conclusion, PubMed offers a vast collection of scientific articles on the NCF2 gene and its associated diseases. Researchers, clinicians, and other healthcare professionals can utilize this resource to gain a better understanding of genetic conditions related to NCF2 and explore potential treatment options. The information available on PubMed is constantly updated, ensuring that users can access the most recent findings and advancements in the field of genetics.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genetic information on a wide range of diseases. It provides a valuable resource for researchers, healthcare professionals, and individuals looking for information on genetic disorders.
The NCF2 gene, also known as p67-phox, is one of the genes listed in OMIM. It is involved in the production of proteins that play a crucial role in the functioning of the immune system. Variants in the NCF2 gene can lead to changes in the production of these proteins, resulting in a condition called chronic granulomatous disease (CGD).
CGD is a complex genetic disease characterized by an increased susceptibility to infections. It can affect various organs and systems in the body, including the lungs, skin, and digestive tract. The disease is thought to be caused by defects in the NADPH oxidase complex, which is responsible for the production of reactive oxygen species by neutrophils.
Testing for variants in the NCF2 gene can be done to confirm a diagnosis of CGD. Additionally, genetic testing can also be useful for identifying carriers of the disease or for prenatal testing.
OMIM provides additional information on the NCF2 gene, including references to scientific articles and other databases. The gene’s OMIM page includes a list of related articles from PubMed, a central repository of scientific literature.
In summary, OMIM serves as a comprehensive catalog of genes and diseases. The inclusion of the NCF2 gene and its association with CGD highlights its relevance in the field of genetics and its importance for understanding and diagnosing related conditions. Researchers, healthcare professionals, and individuals interested in genetic diseases can benefit from the wealth of information available in OMIM.
Gene and Variant Databases
In the field of genetics, there are several databases that provide related scientific information about genes and variants. These databases compile information about genetic changes, diseases associated with specific genes, and additional relevant details.
One such database is the NCBI Gene database, which serves as a comprehensive catalog of genes and their associated names, diseases, and genetic changes. It provides information about the NCF2 gene, among others. The database also includes links to articles published on PubMed, a central repository of scientific literature.
Another database that focuses specifically on gene variants is the HGMD (Human Gene Mutation Database). This database compiles information about genetic variants and their association with various diseases. Researchers can access the database to find detailed information about specific variants, including their functional effects and references to relevant scientific articles.
When it comes to the NCF2 gene, there are specific databases and resources that provide more in-depth information. The NCF2 Gene Homepage is a registry for this gene and includes information about its structure, function, and the diseases it is associated with, such as chronic granulomatous disease (CGD) and systemic lupus erythematosus (SLE).
For those interested in genetic testing, resources like OMIM (Online Mendelian Inheritance in Man) and GeneTests can be valuable. OMIM provides detailed information about genetic conditions, including the genetic variants causing the disease, while GeneTests offers a comprehensive list of genetic tests available for various genes and diseases.
In the case of the NCF2 gene and its variants, researchers can use these resources to gather more information about how changes in this gene may lead to conditions like CGD or SLE. The NCF2 gene encodes a protein called p67-phox, which is part of the NADPH oxidase complex in neutrophil granulocytes. Mutations in this gene can result in an impaired reactive oxygen species (ROS) production, leading to the development of CGD.
Furthermore, studies have indicated a potential link between NCF2 variants and SLE. The NCF2 gene is thought to play a role in the central regulation of immune response, and genetic variations in this gene have been associated with an increased risk of developing SLE. Scientific articles and citation resources can provide further insights into this connection.
|A comprehensive catalog of genes and their associated information
|A database focusing on gene variants and their association with diseases
|Provides detailed information about genetic conditions and the genetic variants causing them
|Offers a comprehensive list of genetic tests available for various genes and diseases
These databases and resources play a crucial role in advancing our understanding of genes, variants, and their association with diseases. They provide scientists and healthcare professionals with valuable information for research, diagnosis, and treatment in the field of genetics.
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